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Serebella

• Aarskog Syndrome (4)
• Aase Syndrome (3)
• Ablepharon-Macrostomia Syndrome (4)
• Acoustic Neuroma@ (14)
• Adie Syndrome@ (3)
• Adrenal Hyperplasia@ (5)
• Adrenoleukodystrophy@ (5)
• Aicardi Syndrome@ (8)
• Alagille Syndrome (5)
• Albinism@ (7)
• Alfi's Syndrome (2)
• Alkaptanuria@ (7)
• Alopecia Areata@ (11)
• Alpha-1 Antitrypsin Deficiency@ (13)
• Angelman Syndrome@ (16)
• Apert Syndrome@ (9)
• Arthrogryposis@ (28)
• Aspartylglucosaminuria@ (3)
• Ataxia@ (11)
• Autism@ (423)
• Bardet-Biedl Syndrome@ (4)
• Barth Syndrome (4)
• Batten Disease@ (7)
• Beckwith-Wiedemann Syndrome (7)
• Bloom Syndrome (4)
• Branchio-Oto-Renal Syndrome@ (5)
• Brugada Syndrome@ (4)
• Canavan@ (3)
• Celiac@ (46)
• Cerebrocostomandibular Syndrome@ (2)
• Charcot-Marie-Tooth Disease@ (15)
• Choroideremia@ (3)
• Cleidocranial Dysplasia@ (4)
• Cockayne Syndrome@ (3)
• Coffin Lowry Syndrome@ (4)
• Cohen Syndrome (3)
• Congenital Lactase Deficiency@ (1)
• Congenital Pain Insensitivity@ (1)
• Cornea Plana Congenita@ (1)
• Cornelia De Lange Syndrome@ (7)
• Costello Syndrome (3)
• Cowden Syndrome@ (5)
• Craniofrontonasal Dysplasia@ (3)
• Cri du Chat Syndrome@ (7)
• Crigler-Najjar Syndrome@ (7)
• Currarino Syndrome@ (4)
• Cystic Fibrosis (92)
• Cystinosis@ (6)
• DiGeorge Syndrome (4)
• Down Syndrome (96)
• Dubowitz Syndrome (3)
• Dwarfism@ (32)
• Ectodermal Dysplasia@ (7)
• Ehlers-Danlos Syndrome@ (20)
• Ellis-van Creveld Syndrome@ (4)
• Epidermolysis Bullosa@ (12)
• Factor V Leiden@ (4)
• Familial Adenomatous Polyposis@ (8)
• Familial Dysautonomia@ (7)
• Familial Erythromelalgia@ (3)
• Familial Hypercholesterolemia@ (6)
• Familial Mediterranean Fever@ (7)
• Fanconi Anemia@ (11)
• Fatty Oxidation@ (6)
• Floating-Harbor Syndrome (3)
• Fragile X Syndrome (14)
• Freeman-Sheldon Syndrome@ (4)
• Friedreich Ataxia@ (11)
• Fuchs' Dystrophy@ (4)
• Galactosemia@ (8)
• Gaucher's@ (5)
• Gilbert's Syndrome@ (10)
• Glutaricaciduria@ (3)
• Glycogen Storage Disease Type II@ (4)
• GRACILE Syndrome@ (3)
• Hailey-Hailey Disease@ (4)
• Hallervorden-Spatz Syndrome@ (2)
• Hemihypertrophy@ (4)
• Hemochromatosis@ (14)
• Hemophilia@ (21)
• Hereditary Angioedema@ (5)
• Hereditary Spastic Paraplegia (6)
• Homocystinuria@ (4)
• Huntington's@ (19)
• Hydrocephalus@ (31)
• Hydrolethalus Syndrome (2)
• Imerslund-Grasbeck Syndrome@ (2)
• Incontinentia Pigmenti@ (6)
• Jacobsen Syndrome@ (3)
• Joubert Syndrome@ (4)
• Klinefelter Syndrome@ (8)
• Klippel-Feil Syndrome@ (6)
• Langer-Giedion Syndrome (4)
• Larsen Syndrome@ (3)
• Laurence-Moon Syndrome (3)

• Leber's Congenital Amaurosis@ (8)
• Leigh's@ (3)
• Lesch-Nyhan Syndrome@ (2)
• Leukodystrophy@ (22)
• Lissencephaly@ (3)
• Loeys-Dietz Syndrome (6)
• Lowe Syndrome (2)
• Lymphedema@ (26)
• Lysinuric Protein Intolerance@ (5)
• Machado-Joseph@ (2)
• Mannosidosis@ (3)
• Maple Syrup Urine Disease@ (9)
• Marfan Syndrome@ (19)
• MCAD@ (6)
• McArdle's@ (2)
• MEB Disease@ (3)
• Meckel-Gruber Syndrome (2)
• Menkes' Syndrome@ (5)
• Mobius Syndrome@ (2)
• Mucolipidosis@ (3)
• Mucolipidosis Type IV@ (3)
• Mulibrey Nanism@ (3)
• Multiple Hereditary Exostoses@ (5)
• Muscular Dystrophies@ (54)
• Myotonic Dystrophy@ (3)
• Nail Patella Syndrome@ (6)
• Narcolepsy@ (14)
• Nasu-Hakola Disease (3)
• Neurofibromatosis@ (14)
• Niemann-Pick@ (7)
• Noonan Syndrome (9)
• Opitz Syndrome (3)
• Oral-facial-digital Syndrome@ (4)
• Osteogenesis Imperfecta@ (11)
• Osteopetrosis@ (7)
• Pallister Killian Mosaic Syndrome (6)
• Pallister-Hall Syndrome (4)
• PEHO Syndrome@ (5)
• Phenylketonuria@ (8)
• Polycystic Kidney@ (10)
• Popliteal Pterygium Syndrome (1)
• Porphyrias@ (12)
• Prader-Willi Syndrome (14)
• Progeria@ (12)
• Progeria (12)
• Propionic Acidemia@ (5)
• Proteus Syndrome (7)
• Prune Belly Syndrome@ (3)
• Pseudoxanthoma Elasticum@ (6)
• Raine Syndrome@ (5)
• RAPADILINO Syndrome@ (4)
• Refsum's@ (3)
• Retinoblastoma@ (21)
• Retinoschisis@ (5)
• Rett's Syndrome@ (16)
• Robinow Syndrome@ (3)
• Rubinstein-Taybi Syndrome (8)
• Russell Silver Syndrome@ (6)
• Sanfilippo Syndrome@ (5)
• Schizencephaly@ (3)
• Shwachman Syndrome (9)
• Sickle Cell@ (14)
• Smith Lemli Opitz Syndrome@ (4)
• Smith-Magenis Syndrome (5)
• Sotos Syndrome@ (5)
• Spinal Muscular Atrophy@ (15)
• Stickler's Syndrome@ (10)
• Sturge-Weber Syndrome@ (5)
• Sturge-Weber Syndrome (4)
• Tay-Sachs@ (5)
• Thalassemia@ (15)
• Thrombocytopenia Absent Radius Syndrome@ (4)
• Tourette Syndrome@ (48)
• Treacher Collins Syndrome@ (9)
• Trichothiodystrophy@ (9)
• Triploidy (2)
• Tuberous Sclerosis@ (13)
• Turner Syndrome@ (15)
• Tyrosinemia@ (2)
• Unverricht-Lundborg Disease@ (2)
• Urea Cycle Disorders@ (1)
• Usher Syndrome@ (7)
• VACTERL Association (15)
• VATER Syndrome@ (15)
• Velo-Cardio-Facial Syndrome (4)
• Von Hippel-Lindau (5)
• Waardenburg Syndrome (2)
• WAGR Syndrome@ (6)
• Weaver Syndrome (2)
• Williams Syndrome@ (17)
• Wilson's Disease@ (10)
• Wolf-Hirschhorn Syndrome@ (8)
• Xeroderma Pigmentosum@ (9)
• Zellweger Syndrome@ (6)

• Cardiac@ (33)
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• Metabolic@ (468)

• Musculoskeletal@ (190)
• Neurological@ (83)
• Urological@ (13)

• Gene Therapy@ (55)
• Genetic Testing and Counseling@ (41)
• Genetics Education@ (21)
• Human Genetics@ (241)

• Organizations (9)
• Personal Pages (12)
• Support Groups@ (16)

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